Isolated congenital megalocornea
Synonyms: Congenital anterior megalophthalmia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- X-linked recessive
- Status
- active
Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital megalocornea | Congenital anterior megalophthalmia |
| fr | Mégalocornée isolée congénitale | Mégalophtalmie antérieure congénitale |
| de | Megalokornea, isolierte kongenitale | Megalophthalmus anterior, kongenitaler |
| es | Megalocórnea aislada congénita | Megaloftalmia anterior congénita |
| it | Megalocornea isolata congenita | Megaloftalmia anteriore congenita |
| nl | Geïsoleerde congenitale megalocornea | Congenitale anterieure megaloftalmie |
| pt | Megalocórnea congénita isolada | |
| pl | Izolowana wrodzona rogówka olbrzymia | = en |
| cs | Izolovaná vrozená megalokornea | Kongenitální anteriorní megaloftalmie |
| uk | Ізольована вроджена мегалокорнеа | Вроджена передня мегалофтальмія |
| zh | 孤立型先天性巨大角膜 | 先天性前巨眼 |
| tr | İzole doğumsal megalokornea | Doğumsal anterior megaloftalmi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309300 | E | validated | |
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | LA11.1 | NTBT | index | validated |
| MONDO | 0010649 | E | validated | |
| UMLS | C4518341 | E | validated | |
| GARD | 12648 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98635Corneodysgenesis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHRDL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29861 | ENSG00000101938 | 300350 | Xq23 | chordin like 1 | 22284829[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91489
- This record as JSON: /data/d/91489.json